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Articles 2731 - 2760 of 76838

Full-Text Articles in Medical Specialties

Clopidogrel Versus Aspirin Monotherapy Following Dual Antiplatelet Therapy After Percutaneous Coronary Intervention: An Updated Meta- Analysis Of 162,829 Patients, Mohammed A. Elbahloul, Ahmed Mansour, Amr Galal, Walaa M. Moawad, Manar Khaled, Ahmed Wahdan Kasem, Eman E. Labeeb, Islam Y. Elgendy Jan 2026

Clopidogrel Versus Aspirin Monotherapy Following Dual Antiplatelet Therapy After Percutaneous Coronary Intervention: An Updated Meta- Analysis Of 162,829 Patients, Mohammed A. Elbahloul, Ahmed Mansour, Amr Galal, Walaa M. Moawad, Manar Khaled, Ahmed Wahdan Kasem, Eman E. Labeeb, Islam Y. Elgendy

Gill Heart & Vascular Institute Faculty Publications

Background: Dual antiplatelet therapy (DAPT) following percutaneous coronary intervention (PCI) remains a cornerstone for preventing ischemic events; however, the optimal long-term single antiplatelet therapy after completion of DAPT remains unclear. We aimed to compare clopidogrel and aspirin monotherapy after completion of the standard duration of DAPT.

Methods: A systematic search was conducted on PubMed, Scopus, Cochrane Library, and Web of Science from inception to April 2025. We included randomized clinical trials and observational studies that compared aspirin versus clopidogrel monotherapy after completion of standard-duration DAPT. The primary and co-primary outcomes were major adverse cardiovascular events (MACE) and major bleeding, respectively. …


Colchicine Among Patients With Acute Coronary Syndrome: A Meta‑Analysis Of Randomized Trials, Mohamed Hamed, Sheref A. Mohamed, Mohamed Abdelazeem, Eric Lieberman, Abdelrahman Ali, Dharam J. Kumbhani, Anthony Bavry, Hani Jneid, Islam Y. Elgendy, Ayman Elbadawi Jan 2026

Colchicine Among Patients With Acute Coronary Syndrome: A Meta‑Analysis Of Randomized Trials, Mohamed Hamed, Sheref A. Mohamed, Mohamed Abdelazeem, Eric Lieberman, Abdelrahman Ali, Dharam J. Kumbhani, Anthony Bavry, Hani Jneid, Islam Y. Elgendy, Ayman Elbadawi

Gill Heart & Vascular Institute Faculty Publications

Introduction: Prior trials evaluating the benefit of colchicine in patients with acute coronary syndrome (ACS) have yielded mixed results. Hence, we conducted a meta-analysis of randomized controlled trials (RCTs) to evaluate the role of colchicine after ACS.

Methods: We performed an electronic search of MEDLINE, Embase, and Cochrane databases through November 2024 for studies comparing colchicine with placebo after ACS. Our study’s primary outcome was major adverse cardiac events (MACE).

Results: Our final analysis included five RCTs with 12,979 patients with a mean follow-up of 26.6 months. The weighted mean age was 59.8 years. Colchicine was associated with a modest …


A Case Of Primary Gastric Diffuse Large B-Cell Non-Hodgkin Lymphoma With Tumor Lysis Syndrome And The Warburg Effect, Sarah Barnhardt, Brooke Escoe, Mary Carter Jan 2026

A Case Of Primary Gastric Diffuse Large B-Cell Non-Hodgkin Lymphoma With Tumor Lysis Syndrome And The Warburg Effect, Sarah Barnhardt, Brooke Escoe, Mary Carter

South Atlantic Division GME Research Day 2025

No abstract provided.


Breaking Bad Cells: Histotripsy As A Noninvasive Weapon Against Hcc, Durga A. Kumar, Baylen Shoemaker, Rafik Lababidi, Patricia Chun Jan 2026

Breaking Bad Cells: Histotripsy As A Noninvasive Weapon Against Hcc, Durga A. Kumar, Baylen Shoemaker, Rafik Lababidi, Patricia Chun

West Florida Division GME Research Day 2026

No abstract provided.


Heterologous Leadless Pacing: Resolution Of Pacemaker Syndrome Via Co-Implantation Of An Abbott Aveir Atrial Leadless Pacemaker With A Medtronic Micra Av, Badal Sojitra, Baylen Shoemaker, Shiv Gakhar, Vincent Sachs, Kun Xiang Jan 2026

Heterologous Leadless Pacing: Resolution Of Pacemaker Syndrome Via Co-Implantation Of An Abbott Aveir Atrial Leadless Pacemaker With A Medtronic Micra Av, Badal Sojitra, Baylen Shoemaker, Shiv Gakhar, Vincent Sachs, Kun Xiang

West Florida Division GME Research Day 2026

No abstract provided.


Hca Florida Trinity Hospital Heart Failure Quality Improvement Project, Guillermo Gomez, Yuvedha Senthil, Ubaldo Gonzalez, Kero Hakim, Karo Hakim, Paras Shah, Dale Calixte, Chris Lane, Zach Sukin, Jordan Young Jan 2026

Hca Florida Trinity Hospital Heart Failure Quality Improvement Project, Guillermo Gomez, Yuvedha Senthil, Ubaldo Gonzalez, Kero Hakim, Karo Hakim, Paras Shah, Dale Calixte, Chris Lane, Zach Sukin, Jordan Young

West Florida Division GME Research Day 2026

No abstract provided.


Suspected Cornual Ectopic Pregnancy In A Bicornuate Uterus Following In Vitro Fertilization, Jacqueline Baron, Natalie Canuteson Jan 2026

Suspected Cornual Ectopic Pregnancy In A Bicornuate Uterus Following In Vitro Fertilization, Jacqueline Baron, Natalie Canuteson

West Florida Division GME Research Day 2026

No abstract provided.


Strep Pasteurianus Toxic Shock Syndrome Revealing Colon Adenocarcinoma, Kendal Hansen, Enrique Urrutia Jan 2026

Strep Pasteurianus Toxic Shock Syndrome Revealing Colon Adenocarcinoma, Kendal Hansen, Enrique Urrutia

West Florida Division GME Research Day 2026

No abstract provided.


Dark And Camouflaged Genomic Regions Remain Challenging In Chm13, Mark E. Wadsworth, Madeline L. Page, Bernardo Aguzzoli Heberle, Justin B. Miller, Cody J. Steely, Mark T. W. Ebbert Jan 2026

Dark And Camouflaged Genomic Regions Remain Challenging In Chm13, Mark E. Wadsworth, Madeline L. Page, Bernardo Aguzzoli Heberle, Justin B. Miller, Cody J. Steely, Mark T. W. Ebbert

Sanders-Brown Center on Aging Faculty Publications

Comprehensive genomic analysis is essential for advancing our understanding of human genetics and disease. However, short-read sequencing technologies are inherently limited in their ability to resolve highly repetitive, structurally complex, and low-mappability genomic regions, previously coined as “dark” regions. Long-read sequencing technologies, such as PacBio and Oxford Nanopore Technologies (ONT), offer improved resolution of these regions, yet they are not perfect. With the advent of the new Telomere-to-Telomere (T2T) CHM13 reference genome, exploring its effect on dark regions is prudent. In this study, we systematically analyze dark regions across four human genome references—HG19, HG38 (with and without alternate contigs), and …


Data-Driven Thresholds For Standardized Classification Of Severe Alzheimer’S Disease Neuropathology Using Digital Neuropathology, Ryan K. Shahidehpour, Allison M. Neltner, Mitchell A. Klusty, Cole Corbett, Angelique D. Gonzalez, David A. Gutman, David W. Fardo, Adam D. Bachstetter, Cody Bumgardner, Margaret E. Flanagan, Peter T. Nelson Jan 2026

Data-Driven Thresholds For Standardized Classification Of Severe Alzheimer’S Disease Neuropathology Using Digital Neuropathology, Ryan K. Shahidehpour, Allison M. Neltner, Mitchell A. Klusty, Cole Corbett, Angelique D. Gonzalez, David A. Gutman, David W. Fardo, Adam D. Bachstetter, Cody Bumgardner, Margaret E. Flanagan, Peter T. Nelson

Sanders-Brown Center on Aging Faculty Publications

Alzheimer's disease neuropathological changes (ADNC)—operationalized with semi-quantitative parameters—represent the consensus-based gold standard for diagnostic evaluation of disease severity. Although useful, ADNC diagnostic frameworks have limitations, particularly in advanced disease stages where pathological severity varies widely within a given diagnostic category. Further, some individuals lacking cognitive impairment are inappropriately categorized as having severe ADNC. In this study, quantitative pathology metrics and alternative tissue sampling schemes were integrated with data about premortem cognitive status, in order to derive clinically informed neuropathologic diagnostic thresholds. Specific goals of the current study were to generate data-driven, standardized diagnostic cut-points, with the most severe stages of …


Clonal Expansion Of Cytotoxic Cd8⁺ T Cells In Lecanemab-Associated Aria, Lance A. Johnson, Kai Saito, Akhil V. Pallerla, Jessica L. Funnell, Ashley R. Ezzo, Chelsea M. Song, Douglas A. Harrison, Noah J. Norton, Lauren C. Moore, Linda J. Van Eldik, David W. Fardo, Greg E. Cooper, Josh M. Morganti Jan 2026

Clonal Expansion Of Cytotoxic Cd8⁺ T Cells In Lecanemab-Associated Aria, Lance A. Johnson, Kai Saito, Akhil V. Pallerla, Jessica L. Funnell, Ashley R. Ezzo, Chelsea M. Song, Douglas A. Harrison, Noah J. Norton, Lauren C. Moore, Linda J. Van Eldik, David W. Fardo, Greg E. Cooper, Josh M. Morganti

Sanders-Brown Center on Aging Faculty Publications

Amyloid-related imaging abnormalities (ARIA) are the principal safety concern limiting anti-amyloid therapies for Alzheimer’s disease, yet their biology remains unclear. Here we show, through multi-omic profiling of peripheral blood from three ARIA+ patients and matched controls, that ARIA is associated with coordinated reprogramming of CD8 + T cells. CD8+ effector memory (TEM) and terminally differentiated (TEMRA) subsets were expanded, clonally enriched, and transcriptionally primed for cytotoxicity and vascular trafficking. Transcription factor inference and metabolomics converged on glycolytic reprogramming favoring short-lived effector function. Ligand-receptor modeling revealed enhanced monocyte-to-T cell signaling through antigen presentation, adhesion, and chemokine axes, while integration with a …


Knowledge Based Automated Planning For Non-Coplanar Vmat Stereotactic Radiosurgery In Ocular Malignancies, Chase Cochran, Shane Mccarthy, William St. Clair, Damodar Pokhrel Jan 2026

Knowledge Based Automated Planning For Non-Coplanar Vmat Stereotactic Radiosurgery In Ocular Malignancies, Chase Cochran, Shane Mccarthy, William St. Clair, Damodar Pokhrel

Radiation Medicine Faculty Publications

Background and Purpose: Stereotactic radiosurgery/radiotherapy (SRS/SRT) has emerged as a less invasive alternative to enucleation in the management of ocular malignancies. SRS/SRT planning is time-consuming, complex, and the plan quality depends on the experience of the treatment planner. We demonstrate the use of RapidPlan modeling in conjunction with HyperArc for the treatment of ocular diseases to improve planning efficiency, consistency, and quality.

Materials and Methods: A HyperArc-based RapidPlan (HARP) model was iteratively trained on 80 patient datasets that simulated ocular malignancies. Twenty additional patient datasets were reserved for model testing and comparison with manual plans. Each testing dataset was both …


Designing Theranostic Radiopharmaceutical Trials For Uterine Cervix Cancer, Denise Fabian, Molly E. Buffington, Brianna S. Cagle, Steve M. Keefe, Michael K. Schultz, Charles A. Kunos Jan 2026

Designing Theranostic Radiopharmaceutical Trials For Uterine Cervix Cancer, Denise Fabian, Molly E. Buffington, Brianna S. Cagle, Steve M. Keefe, Michael K. Schultz, Charles A. Kunos

Radiation Medicine Faculty Publications

Designing and interpreting early phase trials of theranostic radiopharmaceuticals remains challenging because it is difficult to isolate effective levels of activity in enriched patient populations that would be worth following up in later-phase development. This study explores the known challenges and emerging opportunities for clinical research on patients with uterine cervical cancer. We identified eight randomized combination trials for advanced-stage uterine cervix cancer that were activated between 2011 and 2022 and tabulated their results to determine whether combinations were better than individual constituents and which suitable study population is best situated for the study of a new theranostic agent. In …


Substitution Of Cannabis For Prescribed Medications In The Management Of Anxiety And Depression Among Midlife Women: A Cross-Sectional Study, Jocelyn Mueller, Jamia Sapp, Jennifer Attonito, Aditya Chakraborty, Karina Villalba Jan 2026

Substitution Of Cannabis For Prescribed Medications In The Management Of Anxiety And Depression Among Midlife Women: A Cross-Sectional Study, Jocelyn Mueller, Jamia Sapp, Jennifer Attonito, Aditya Chakraborty, Karina Villalba

Epidemiology, Biostatistics, & Environmental Health Faculty Publications

Background and Aims

Given the rising prevalence of cannabis use as an alternative strategy for managing mental health symptoms, there is a crucial need to understand the determinants of substitution behavior, particularly among midlife women who may experience distinct psychosocial and clinical profiles. This study examined the predictors of cannabis substitution among midlife women by comparing profiles of women who substituted cannabis for antidepressant medications versus those who substituted for anxiolytic medications.

Methods

A cross-sectional survey of 172 women who reported substituting cannabis for either anxiety or depression medications was conducted. Measures included the PHQ-8, OASIS, AUDIT, and ACEs. Logistic …


Reverse Koebner Phenomenon In Linear Scalp Morphea Following Punch Biopsy: A Rare Therapeutic Response, Suhas C. Gowda, Akshay Samagani, Shreyas C. Gowda Jan 2026

Reverse Koebner Phenomenon In Linear Scalp Morphea Following Punch Biopsy: A Rare Therapeutic Response, Suhas C. Gowda, Akshay Samagani, Shreyas C. Gowda

Digital Journal of Clinical Medicine

Morphea is a chronic immune-mediated fibrosing disorder characterized by excessive collagen deposition in the skin. Linear morphea of the scalp (en coup de sabre) commonly demonstrates the Koebner phenomenon, wherein lesions develop at sites of trauma; however, the reverse Koebner phenomenon—trauma-induced regression—is exceptionally rare. We report an unusual case of linear scalp morphea showing early regression following a diagnostic punch biopsy. A 71-year-old male presented with an asymptomatic, indurated linear plaque on the scalp of two months’ duration. Histopathology from a 3.5-mm punch biopsy confirmed morphea, demonstrating dense collagen bundles with lymphoplasmacytic infiltrate. At follow-up eight days after …


Cerebellar Deep Brain Stimulation Rescues Purkinje Cell Mitochondrial Density In A Genetic Mouse Model Of Cerebellar Ataxia, Lauren N Miterko-Myers, Lauren E Peacoe, Lita Duraine, Zhongyuan Zuo, Roy V Sillitoe Jan 2026

Cerebellar Deep Brain Stimulation Rescues Purkinje Cell Mitochondrial Density In A Genetic Mouse Model Of Cerebellar Ataxia, Lauren N Miterko-Myers, Lauren E Peacoe, Lita Duraine, Zhongyuan Zuo, Roy V Sillitoe

Faculty, Staff and Students Publications

Deep brain stimulation (DBS) improves motor function in a growing list of movement diseases including Parkinson's disease, dystonia, and tremor. There is evidence that DBS may also be effective in ataxia. It is not known why DBS is effective, but modulating cell activity and conferring neuroprotection are hypothesized to underlie its benefits. Understanding the effects of DBS on neurons is paramount to extending its clinical use in the treatment of various motor and non-motor diseases. Here, we stimulated the cerebellum of Car8 waddles (Car8wdl) mice, given the cerebellum's important role in ataxia pathophysiology. Using transmission electron microscopy, we tested the …


Severe Maternal Morbidity According To Sickle Cell Disease Genotype, Tetsuya Kawakita, Natsume Furukawa, Sora A. Jones, Salimah Navaz Gangji Jan 2026

Severe Maternal Morbidity According To Sickle Cell Disease Genotype, Tetsuya Kawakita, Natsume Furukawa, Sora A. Jones, Salimah Navaz Gangji

Department of Obstetrics & Gynecology Faculty Publications

Background

Sickle cell disease (SCD) is a genetic hemoglobinopathy that disproportionately affects individuals of African descent and is associated with elevated risks of maternal complications. However, the contribution of specific SCD genotypes to severe maternal morbidity (SMM) and postpartum readmission remains poorly characterized at the population level.

Objective

We sought to examine the association between SCD genotypes-hemoglobin SS (HbSS) disease, hemoglobin SC (HbSC) disease, sickle thalassemia, and sickle cell trait-and SMM, hospital readmission, and related adverse maternal outcomes.

Study design

This was a retrospective cohort study using the Nationwide Readmissions Database from 2016 through 2022, representing over 20 million weighted …


Sleepiness In Pregnancy And Adverse Perinatal Outcomes, Rachel Friedlander, Xiaoning Huang, Phyllis Zee, Sadiya S. Khan, Philip Greenland, Francesca L. Facco, Judith Chung, William A. Grobman, Shalini Manchanda, Uma M. Reddy, George R. Saade, Robert M. Silver, Lynn M. Yee Jan 2026

Sleepiness In Pregnancy And Adverse Perinatal Outcomes, Rachel Friedlander, Xiaoning Huang, Phyllis Zee, Sadiya S. Khan, Philip Greenland, Francesca L. Facco, Judith Chung, William A. Grobman, Shalini Manchanda, Uma M. Reddy, George R. Saade, Robert M. Silver, Lynn M. Yee

Department of Obstetrics & Gynecology Faculty Publications

Background

Sleep disorders in pregnancy have been associated with adverse pregnancy outcomes including hypertensive disorders of pregnancy, preterm birth, and gestational diabetes mellitus, yet these findings are largely from retrospective studies. Using data from a prospective study that used validated tools to assess sleepiness in pregnancy, we aimed to assess the association of sleepiness in pregnancy with adverse pregnancy outcomes.

Methods

In this secondary analysis of data from a large, diverse prospective cohort of nulliparous individuals conducted at eight United States medical centers, those with self-reported sleep data were included. Sleepiness was evaluated in early (6-13 weeks) and mid-pregnancy (22-29 …


Posterior Subperiosteal Abscess Of The Distal Femur In A Pediatric Patient: A Rare Surgical Presentation Of Acute Hematogenous Osteomyelitis, Michael Dearman, Corey Bindner Jan 2026

Posterior Subperiosteal Abscess Of The Distal Femur In A Pediatric Patient: A Rare Surgical Presentation Of Acute Hematogenous Osteomyelitis, Michael Dearman, Corey Bindner

School of Medicine Student Publications and Presentations

Introduction: Pediatric osteomyelitis commonly arises from acute hematogenous spread and remains diagnostically challenging due to limited radiographic findings and difficulty obtaining MRI in young children. Subperiosteal abscess formation is an uncommon but serious complication, with posterior distal femoral involvement reported only once previously.

Case Report: A 19-month-old male presented with fever and refusal to bear weight. Initial radiographs were unremarkable. Worsening symptoms prompted admission with rising inflammatory markers and blood cultures positive for gram positive cocci. MRI demonstrated distal femoral metaphyseal osteomyelitis with a posterior subperiosteal abscess. Through an anterior arthrotomy and metaphyseal drilling, osteomyelitis and joint involvement were addressed. …


Fill The Void - An Introductory Guide For Learning Medical Imaging, Reid Faith, Peter Gahan, Adam Trusty, Aleksandr Zyskin, Chukwuka Ukekwe, Denise Nchinda, Amanda K. Burbage, Alberto E. Musto Jan 2026

Fill The Void - An Introductory Guide For Learning Medical Imaging, Reid Faith, Peter Gahan, Adam Trusty, Aleksandr Zyskin, Chukwuka Ukekwe, Denise Nchinda, Amanda K. Burbage, Alberto E. Musto

EVMS School of Health Professions Faculty Publications

No standardized, comprehensive approach for radiological image interpretation exists among medical schools in the United States of America. In order to rectify this, we outline a model aimed to help improve how medical imaging can be taught in medical schools. The VOID (Visualization, Orientation/Observation, Identification, Description) guide is a proposed universal, stepwise approach to medical image identification, interpretation, and communication. This structured guideline is aimed at building a foundation for students in early medical education. The VOID was applied to CT (Computed Tomography), MRI (Magnetic Resonance Imaging), and x-ray modalities as integrated sessions for medical students during human anatomy laboratory. …


Evaluation Of Micronized, Electrospun Fiber Matrix Effect On Outcomes Of Major Lower Extremity Amputations., Michael Dearman, Brittany Wagner, Alireza Behbudi, Luis Fernandez, Alan Cook, Rebecca Swindall, Brandi Pero, Alisha Thedford Jan 2026

Evaluation Of Micronized, Electrospun Fiber Matrix Effect On Outcomes Of Major Lower Extremity Amputations., Michael Dearman, Brittany Wagner, Alireza Behbudi, Luis Fernandez, Alan Cook, Rebecca Swindall, Brandi Pero, Alisha Thedford

School of Medicine Student Publications and Presentations

Background: Major lower extremity amputations are associated with substantial postoperative morbidity and mortality (Belmont). Restrata is a synthetic electrospun fiber matrix that is engineered to closely resemble human extracellular matrix to facilitate wound healing while avoiding the drawbacks of traditional biologic wound matrices (MacEwan, Fernandez). There have been no studies which have directly compared micronized electrospun fiber matrix (MEFM) to biologic xenograft matrices in patients undergoing major lower extremity amputation. The purpose of this study is to compare postoperative wound recovery in patients undergoing major lower extremity amputation, treated with MEFM (Restrata Minimatrix, Acera, St.Louis, Missouri ) versus a type …


Evaluation Of Micronized, Electrospun Fiber Matrix Effect On Outcomes Of Major Lower Extremity Amputations, Michael Dearman, Brittany Wagner, Luis Fernandez, Alireza Behbudi, Alan Cook, Rebecca Swindall, Brandi Pero, Alisha Thedford Jan 2026

Evaluation Of Micronized, Electrospun Fiber Matrix Effect On Outcomes Of Major Lower Extremity Amputations, Michael Dearman, Brittany Wagner, Luis Fernandez, Alireza Behbudi, Alan Cook, Rebecca Swindall, Brandi Pero, Alisha Thedford

School of Medicine Student Publications and Presentations

No abstract provided.


Proof-Of-Concept Development And Preclinical Evaluation Of A Microarray Patch Platform For Codelivery Of Multiple Broadly Neutralizing Antibodies For Hiv Prevention, M. Melissa Peet, Vivek Agrahari, Parbeen Singh, Lam Luong Hoai Nguyen, Louise A. Ouattara, Eun Sung Yang, Carolina Herrera, Amarendra Pegu, Theodore C. Pierson, Thanh D. Nguyen, Gustavo F. Doncel Jan 2026

Proof-Of-Concept Development And Preclinical Evaluation Of A Microarray Patch Platform For Codelivery Of Multiple Broadly Neutralizing Antibodies For Hiv Prevention, M. Melissa Peet, Vivek Agrahari, Parbeen Singh, Lam Luong Hoai Nguyen, Louise A. Ouattara, Eun Sung Yang, Carolina Herrera, Amarendra Pegu, Theodore C. Pierson, Thanh D. Nguyen, Gustavo F. Doncel

CONRAD Publications

Broadly neutralizing antibodies (bnAbs) are advancing as a preventative or treatment option for HIV infection, but currently must be administered parenterally, typically as a large injection or infusion, an invasive method of delivery, especially for the pediatric population. Here, we present proof-of-concept data on a minimally invasive microneedle (MN) patch platform codelivering three bnAbs, PGT121, VRC07-523LS, and PGDM1400LS, from separate MN patch units or pixels. Each 1 cm² patch pixel, fabricated via solvent casting, contained similar to 2 mg of one bnAb. In ex vivo porcine skin tests, the MNs effectively penetrated the skin. When tested in vitro in PBS …


Refining Aicardi Syndrome Diagnostic Criteria: An Expert-Based Consensus Using A Modified Delphi Approach, Silvia Masnada, Valentina De Giorgis, Umberto Carugo, Nadia Bahi-Buisson, Mara Cavallin, Mark Corbett, Manuela Formica, Jozef Gecz, Natalia Petros, Emilio Perucca, Anna Pichiecchio, Paolo Fusar Poli, Elliott H Sherr, Ignatia B Van Den Veyver, Federico Zara, Martin Geroldinger, Pierangelo Veggiotti, Alexis Arzimanoglou Jan 2026

Refining Aicardi Syndrome Diagnostic Criteria: An Expert-Based Consensus Using A Modified Delphi Approach, Silvia Masnada, Valentina De Giorgis, Umberto Carugo, Nadia Bahi-Buisson, Mara Cavallin, Mark Corbett, Manuela Formica, Jozef Gecz, Natalia Petros, Emilio Perucca, Anna Pichiecchio, Paolo Fusar Poli, Elliott H Sherr, Ignatia B Van Den Veyver, Federico Zara, Martin Geroldinger, Pierangelo Veggiotti, Alexis Arzimanoglou

Duncan NRI Faculty and Staff Publications

Background and objectives: Aicardi syndrome (AIC) is a rare neurodevelopmental disorder historically characterised by the presence of chorioretinal lacunae, corpus callosum agenesis, infantile spasms and several supporting features that aid in diagnosis. However, the unclear aetiology and evolving diagnostic tools have led to ongoing reconsideration of the criteria, based on individual approaches. Our study aimed to establish, for the first time, an expert-based consensus on diagnostic criteria for AIC by integrating both existing and novel ones.

Methods: A geographically diverse and multidisciplinary group of expert physicians was invited to participate in a modified Delphi study, to achieve consensus on major, …


Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group Jan 2026

Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group

Duncan NRI Faculty and Staff Publications

Purpose: Many children with severe genetic disorders remain undiagnosed despite advanced genomic technologies. Early diagnosis is vital for prognosis, genetic counseling, and targeted treatment development. This study aims to increase diagnostic rates in complex pediatric cases and foster research into disease mechanisms.

Methods: Launched in 2016, the Telethon Undiagnosed Diseases Program provides a structured, multicenter approach to rare disease diagnosis. Standardized case submission criteria ensured consistent clinical data collection. Children with severe, multisystemic disorders and prior negative genetic tests were eligible. After case approval, trio-based exome sequencing was performed, with regular reanalysis for unsolved cases until December 2024.

Results: Between …


Acute Aortic Dissection Masquerading As Testicular Torsion: A Case Report, Bruce M. Lo, Megyn K. Christensen, Coral E. Byrns, Benjamin Chidester Jan 2026

Acute Aortic Dissection Masquerading As Testicular Torsion: A Case Report, Bruce M. Lo, Megyn K. Christensen, Coral E. Byrns, Benjamin Chidester

Department of Emergency Medicine Faculty Publications

Introduction: Aortic dissection is a rare but life-threatening condition with a high mortality rate if diagnosis is delayed. Aortic dissection classically presents with sudden-onset, sharp pain in the chest or back. However, atypical presentations can also occur, which could lead to a delay in diagnosis.

Case Report: A patient initially presented to the emergency department (ED) with left testicular pain ongoing for several hours. On examination, he had tenderness in the left lower quadrant abdomen and left testicle. A testicular ultrasound revealed decreased blood flow to the left testicle, raising concern for testicular torsion. The patient was taken to the …


Cerebral Embolic Protection During Transcatheter Aortic Valve Replacement: Contemporary Randomized Evidence On Clinical And Disabling Stroke, Yves Najm Mrad, Ahmad Al-Taweel, Bahaeddin Shabaneh Jan 2026

Cerebral Embolic Protection During Transcatheter Aortic Valve Replacement: Contemporary Randomized Evidence On Clinical And Disabling Stroke, Yves Najm Mrad, Ahmad Al-Taweel, Bahaeddin Shabaneh

Gulf Coast Division GME Research Day 2026

No abstract provided.


Transition From High School (Spanish), Children's Health School Services Jan 2026

Transition From High School (Spanish), Children's Health School Services

School Guides

Parent guide about the transition from high school. Translated into Spanish.


Transverse Myelitis, Children's Health School Services Jan 2026

Transverse Myelitis, Children's Health School Services

School Guides

Educator guide about how to support students with transverse myelitis.


Traumatic Brain Injury, Children's Health School Services Jan 2026

Traumatic Brain Injury, Children's Health School Services

School Guides

Educator guide about how to support students with traumatic brain injury.